{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T21:18:20Z","timestamp":1769116700347,"version":"3.49.0"},"reference-count":13,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2009,7,7]],"date-time":"2009-07-07T00:00:00Z","timestamp":1246924800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["SFB\u2010F1816"],"award-info":[{"award-number":["SFB\u2010F1816"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Danon disease is an X\u2010linked disorder resulting from mutations in the lysosome\u2010associated membrane protein\u20102 (<jats:italic>LAMP2<\/jats:italic>) gene. We report a male patient with skeletal myopathy, mental retardation, and massive hypertrophic obstructive cardiomyopathy necessitating heart transplantation. Immunohistochemistry of skeletal muscle and leukocytes, western blot analysis of leukocytes and cardiac muscle, flow cytometry, and DNA sequencing were performed. Muscle biopsy revealed autophagic vacuolar myopathy and lack of immunohistochemically detectable LAMP\u20102. Diagnosis of Danon disease was confirmed by western blot analysis of myocardial tissue and peripheral blood sample of the patient showing deficiency of LAMP\u20102 in myocardium and leukocytes. Moreover, absence of LAMP\u20102 in lymphocytes, monocytes and granulocytes was shown by flow cytometric analysis. Genetic analysis of the <jats:italic>LAMP2<\/jats:italic> gene revealed a novel 1\u2010bp deletion at position 179 (c.179delC) at the 3\u2032 end of exon 2, resulting in a frameshift with a premature stop codon.<\/jats:p>","DOI":"10.1007\/s10545-009-1097-9","type":"journal-article","created":{"date-parts":[[2009,7,8]],"date-time":"2009-07-08T16:01:20Z","timestamp":1247068880000},"page":"115-122","source":"Crossref","is-referenced-by-count":24,"title":["Danon disease: Case report and detection of new mutation"],"prefix":"10.1002","volume":"32","author":[{"given":"G.","family":"Regelsberger","sequence":"first","affiliation":[{"name":"Institute of Neurology Medical University of Vienna POB 48 AKH 4J, W\u00e4hringer G\u00fcrtel 18\u201320 Vienna 1097 Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"H\u00f6ftberger","sequence":"additional","affiliation":[{"name":"Institute of Neurology Medical University of Vienna POB 48 AKH 4J, W\u00e4hringer G\u00fcrtel 18\u201320 Vienna 1097 Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. 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J.","family":"Zlabinger","sequence":"additional","affiliation":[{"name":"Institute of Immunology, Center for Physiology, Pathophysiology and Immunology Medical University of Vienna Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"K\u00f6rm\u00f6czi","sequence":"additional","affiliation":[{"name":"Institute of Immunology, Center for Physiology, Pathophysiology and Immunology Medical University of Vienna Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Salzer\u2010Muhar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology University Children's Hospital Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Luckner","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology University Children's Hospital Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O. 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